R40H (p.Arg40His) variant of OTC (P00480)
R40H (p.Arg40His) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- rs72554308
- ClinGen CA224454
- ClinVar RCV000011761
- ClinVar RCV000083333
- Pathogenic/Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.61
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 1.14
- CADD 22.80
- PolyPhen-2 0.54
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon. (PMID 11260212)
- Cited in: The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein… (PMID 11768581)